ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) (rs140841480)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194990 SCV000247214 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000194990 SCV000512899 likely benign not specified 2017-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000470101 SCV000559813 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720802 SCV000851686 likely benign History of neurodevelopmental disorder 2017-05-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768205 SCV000898656 uncertain significance Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 2017-10-23 criteria provided, single submitter clinical testing DYNC1H1 NM_001376.4 exon 30 p.Ala1995= (c.5985C>T): This variant has not been reported in the literature but is present in 103/126648 European alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140841480). This variant is present in ClinVar (Variation ID:210873). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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